Frequency of p.A91V polymorphism in gnomAD* and ASPREE populations
| Cohort . | PRF1WT/WT, N observed (%) . | PRF1WT/A91V, N observed (%) . | PRF1A91V/A91V, N observed (%)/ N expected (%) . |
|---|---|---|---|
| gnomAD | 102 830 (91.240) | 7903 (7.686) | 167 (0.162)/141 (0.137) |
| ASPREE | 12 090 (92.072) | 1017 (7.706) | 24 (0.182)/20 (0.148) |
| Cohort . | PRF1WT/WT, N observed (%) . | PRF1WT/A91V, N observed (%) . | PRF1A91V/A91V, N observed (%)/ N expected (%) . |
|---|---|---|---|
| gnomAD | 102 830 (91.240) | 7903 (7.686) | 167 (0.162)/141 (0.137) |
| ASPREE | 12 090 (92.072) | 1017 (7.706) | 24 (0.182)/20 (0.148) |
gnomAD (Karczewski et al21 ).